hereditary hemorrhagic telangiectasia type 1
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
blood vessels
|
| gptkbp:alsoKnownAs |
gptkb:HHT1
Osler-Weber-Rendu syndrome type 1 |
| gptkbp:complication |
heart failure
stroke brain abscess pulmonary hypertension |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
gptkb:Henri_Rendu
gptkb:William_Osler gptkb:Frederick_Parkes_Weber |
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary hemorrhagic telangiectasia type 1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:ENG_gene
|
| gptkbp:OMIM |
187300
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:anemia
arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasias |
| gptkbp:treatment |
supportive care
antifibrinolytic agents iron supplementation laser therapy embolization of AVMs |
| gptkbp:bfsParent |
gptkb:ENG_gene
|
| gptkbp:bfsLayer |
7
|